真性红细胞增多症神经系统损害.ppt
病例讨论,Polycythaemia Vera Cerebral Infarct Polyneuropathty,病例特点,中年男性，隐匿起病；病程较长，面部及手足皮肤紫红3年；长期大量饮酒史；以双下肢麻木为首发症状，渐有踏棉花样感和活动无力，查体双上肢肘关节以下痛觉减退，音叉觉消失；双下肢腹股沟以下痛觉减退，双髋以下音叉觉消失，Romberg征：睁眼稳，闭眼不稳。双下肢腱反射低。EMG及诱发电位改变；,病例特点,右侧上肢无力，伴记忆力、理解力障碍，反应迟钝一月，查体记忆力减退，计算力差，不能识别手指，左右侧认识不能，书写不能。右侧鼻唇沟浅，右侧肢体肌力级，右上肢腱反射活跃，双侧病理征（)。头MRI：左顶枕可见片状长T2混杂T1异常信号，左颞可见片状长T2短T1异常信号，左顶枕、左颞可见不规则强化。,病例特点,全血增多，红细胞系统尤为显著，凝血机制轻度障碍，骨髓检查呈增生改变；血氧饱和度95.9%；脑脊液蛋白115mg/dl；,定位诊断,周围神经(感觉神经为主)：肢体麻木，长手袜套样痛觉减退，提示小纤维受损；双肘、髋以下深感觉减退乃至消失，提示大髓纤维受损；双下肢活动无力，腱反射低下，提示运动纤维受损。,定位诊断,左大脑中动脉系统Gerstmann综合症：主侧角回；记忆力、理解力障碍，反应迟钝：颞叶右上肢活动无力，腱反射活跃，右中枢性面瘫：中央前回头CT、MRI左额颞顶病灶。,定性诊断,多发性周围神经病：从肢体远端开始的对称性深及浅感觉减退或消失，双下肢活动无力，腱反射减低，四肢远端皮肤营养差，下肢诱发电位检查发现传入障碍。脑梗塞（出血性转换)：存在血液学异常的证据，突发性局灶性神经功能障碍，早期头CT呈低密度改变,一周后头MRI表现梗塞后出血改变,病因诊断,真性红细胞增多症患者颜面、手足皮肤呈暗红色，结膜充血；全血增多，红细胞系统尤其突出；骨髓呈增殖改变；出现脑血栓形成；血氧饱和度正常；脾肿大能排除相对性RBC增多及继发性RBC增多症。,文献复习,Vaquez(1892)和Osler(1903)首先描述了真性红细胞增多症；为骨髓增殖性疾病(myeloproliferative disorder)的一种，本综合症还包括：急性粒细胞性白血病慢性粒细胞白血病骨髓纤维化原发性血小板增多症这些疾病各具特征，其临床表现可有重叠，常常可从一种类型转化为另一种。,文献复习,发病率大约为1/100,000Annals of internal medicine,1995,123(9)报道20年1213例：年龄跨度1090岁，高发年龄4180岁。男女，为1.3:1，或2：1。,文献复习,病因至今不明，1951年Dameskek提出了骨髓增殖症的概念，认为本病为其中一种。骨髓由多种多潜能干细胞克隆家族构成，PV可能为起源于单一多潜能干细胞的克隆病。10PV可转化为粒细胞白血病。,临床表现隐袭发病皮肤紫红，头痛，头晕，视觉障碍，注意力不能集中，感觉异常高血压，高心输出状态血栓或出血,文献复习,血栓：动脉(冠状动脉，脑动脉，周围动脉)静脉(周围静脉,肝或门静脉)小血管供血不足：紫绀，红斑肢痛，甚至指趾坏疽。出血：Mild：鼻出血，牙龈出血，皮肤易于青紫Severe：消化道出血，月经过多，咯血，脑出血,文献复习,神经系统症状常为PV的主要临床表现，百分比高达5678，据Millikan(1960)报道颈动脉或椎基底动脉间歇性供血不全发作是各类型红细胞增多症的重要合并症。脑梗塞是PV最严重的合并症，Lawrence(1953)报道207例中脑动脉梗塞占10，Silverstein(1962)报道511例PV首发症状中，头痛41，眩晕或头晕30，肢体麻木13，中心暗点、视力模糊11，绝大多数为闭塞性脑血管病，少数为脑出血,文献复习,Poza 等（1996)分析了28例PV患者，发现13例有明确的多发性周围神经病，20例神经传导指数异常，属于以感觉为主的轴索性神经病；Yiannikas 等(1983)分析了26例PV患者,其中部分行腓肠神经活检。符合慢性轴索变性神经病。周围神经受损可能与微血管缺血有关(血粘度升高及血小板功能不全)。,文献复习,The vascular complications in patients with polycythemia vera are microvascular circulatory disturbances typical of thrombocythemia including erythromelalgia,peripheral ischemia,atypical cerebral ischemic attacks,and major arterial and venous thrombotic events.,文献复习,Polycythaemia vera is a clonal myeloproliferative disorder mainly involving proliferation of the erythropoiesis.The most serious complications of the disease are a thrombotic tendency and myeloid metaplasia.Thromboses mainly(2/3)occur in the arterial and less often(1/3)in the venous system and are the most common cause of death.,文献复习,Haematological Disorders Associated With ischaemic Stroke,Cellular disorders:Myeloproliferative:Polycythaemia rubra vera Essential thrombocythaemia(b)Sickle cell disease(c)Paroxysmal nocturnal haemoglobinuria(d)Thrombocytopenia(e)Leukaemia(f)Intravascular lymphoma,Disorders of coagulation/fibrin:Congenital:Natural anticoagulant disorders:Protein C deficiency,Protein S deficiency Activated protein C resistance Antithrombin III deficiency Fibrinolytic system disorders:Plasminogen deficiency Acquired:,Haematological Disorders Associated With ischaemic Stroke,(b)Acquired:Disseminated intravascular coagulation Lupus anticoagulant/anticardiolipin syndrome Pregnancy and the puerperium Oral contraceptive pill Paraproteinaemias,Haematological Disorders Associated With ischaemic Stroke(Continue),The goal of treatment is the prevention of thromboembolic complications and of myeloid metaplasia.The initial treatment always consists of phlebotomies until a hematocrit 45%is achieved.,文献复习,The decision regarding maintenance therapy is difficult.While hydroxyurea or radiophosphorus is the treatment of choice in older patients(70 years of age),it is more difficult to select the appropriate therapy for younger patients(60 years),since recent studies have indicated that hydroxyurea treatment might increase the risk of leukemia.,文献复习,Interferon is effective but its role in the treatment of polycythaemia vera has not been established.,文献复习,
